Am J Hum Genet Motta, M, Pannone, L, Pantaleoni, F, Bocchinfuso, G, Radio, F C, Cecchetti, S, Ciolfi, A, Di Rocco, M, Elting, M W, Brilstra, E H, Boni, S, Mazzanti, L, Tamburrino, F, Walsh, L, Payne, K, Fernández-Jaén, A, Ganapathi, M, Chung, W K, Grange, D K, Dave-Wala, A, Reshmi, S C, Bartholomew, D W, Mouhlas, D, Carpentieri, G, Bruselles, A, Pizzi, S, Bellacchio, E, Piceci-Sparascio, F, Lißewski, C, Brinkmann, J, Waclaw, R R, Waisfisz, Q, van Gassen, K, Wentzensen, I M, Morrow, M M, Álvarez, S, Martínez-García, M, De Luca, A, Memo, L, Zampino, G, Rossi, C, Seri, M, Gelb, B D, Zenker, M, Dallapiccola, B, Stella, L, Prada, C E, Martinelli, S, Flex, E & Tartaglia, M 2020, ' Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum ', American journal of human genetics, vol. 107, no. 3, pp. 499-513 . https://doi.org/10.1016/j.ajhg.2020.06.018 American journal of human genetics, 107(3), 499-513. Cell Press
The American journal of human genetics Palencia-Campos, A, Aoto, P C, Machal, E M F, Rivera-Barahona, A, Soto-Bielicka, P, Bertinetti, D, Baker, B, Vu, L, Piceci-Sparascio, F, Torrente, I, Boudin, E, Peeters, S, Van Hul, W, Huber, C, Bonneau, D, Hildebrand, M S, Coleman, M, Bahlo, M, Bennett, M F, Schneider, A L, Scheffer, I E, Kibæk, M, Kristiansen, B S, Issa, M Y, Mehrez, M I, Ismail, S, Tenorio, J, Li, G, Skålhegg, B S, Otaify, G A, Temtamy, S, Aglan, M, Jønch, A E, De Luca, A, Mortier, G, Cormier-Daire, V, Ziegler, A, Wallis, M, Lapunzina, P, Herberg, F W, Taylor, S S & Ruiz-Perez, V L 2020, ' Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome ', American Journal of Human Genetics, vol. 107, no. 5, pp. 977-988 . https://doi.org/10.1016/j.ajhg.2020.09.005 Am J Hum Genet Digital.CSIC. Repositorio Institucional del CSIC instname